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NHEJ1 non-homologous end joining factor 1 [ Homo sapiens (human) ]

Gene ID: 79840, updated on 8-May-2016
Official Symbol
NHEJ1provided by HGNC
Official Full Name
non-homologous end joining factor 1provided by HGNC
Primary source
HGNC:HGNC:25737
See related
Ensembl:ENSG00000187736 HPRD:07784; MIM:611290; Vega:OTTHUMG00000133127
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
XLF
Summary
Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]
Orthologs
Location:
2q35
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (219075324..219160865, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219940046..220025587, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100129175 Neighboring gene cilia and flagella associated protein 65 Neighboring gene microRNA 3131 Neighboring gene indian hedgehog Neighboring gene solute carrier family 23 member 3 Neighboring gene cyclin Pas1/PHO80 domain containing 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
NHGRI GWA Catalog
Genome-wide association analysis identifies 20 loci that influence adult height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Non-homologous end joining, organism-specific biosystem (from WikiPathways)
    Non-homologous end joining, organism-specific biosystem(From http://en.wikipedia.org/wiki/Non-homologous_end_joining) Non-homologous end joining (NHEJ) is a pathway that repairs double-strand breaks in DNA. NHEJ is referred to as "non-homologous" because...
  • Non-homologous end-joining, organism-specific biosystem (from KEGG)
    Non-homologous end-joining, organism-specific biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
  • Non-homologous end-joining, conserved biosystem (from KEGG)
    Non-homologous end-joining, conserved biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
  • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
    Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ12610

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA recombination IEA
Inferred from Electronic Annotation
more info
 
T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
central nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
double-strand break repair via nonhomologous end joining IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
positive regulation of ligase activity NAS
Non-traceable Author Statement
more info
PubMed 
response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nonhomologous end joining complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
non-homologous end-joining factor 1
Names
XRCC4-like factor
nonhomologous end-joining factor 1
protein cernunnos

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007880.1 RefSeqGene

    Range
    5001..90542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_90

mRNA and Protein(s)

  1. NM_024782.2NP_079058.1  non-homologous end-joining factor 1

    See identical proteins and their annotated locations for NP_079058.1

    Status: REVIEWED

    Source sequence(s)
    AJ972687, DB124934
    Consensus CDS
    CCDS2432.1
    UniProtKB/Swiss-Prot
    Q9H9Q4
    Related
    ENSP00000349313, OTTHUMP00000164168, ENST00000356853, OTTHUMT00000256817
    Conserved Domains (1) summary
    pfam09302
    Location:11172
    XLF; XLF (XRCC4-like factor)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    219075324..219160865 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    219947414..220032919 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)